A recombinant X chromosome in a short statured girl resulting from a maternal pericentric inversion

1988 ◽  
Vol 79 (3) ◽  
pp. 251-254 ◽  
Author(s):  
D. P. Duckett ◽  
I. D. Young
Keyword(s):  
X Chromosome ◽  
Pericentric Inversion

Complex t(X;18)(p11.2;q11.2) with a pericentric inversion of the X chromosome in an adolescent boy with synovial sarcoma

2002 ◽  
Vol 132 (2) ◽  
pp. 136-140 ◽  
Author(s):  
Susan Mathew ◽  
James Dalton ◽  
Shannon Riedley ◽  
Sheri L. Spunt ◽  
D.Ashley Hill
Keyword(s):  
Synovial Sarcoma ◽  
X Chromosome ◽  
Pericentric Inversion

scholarly journals Chromosome comparison between two species of Phyllostomus (Chiroptera - Phyllostomidae) from Eastern Amazonia, with some phylogenetic insights

2000 ◽  
Vol 23 (3) ◽  
pp. 595-599 ◽  
Author(s):  
Luís R.R. Rodrigues ◽  
Regina M.S. Barros ◽  
Maria de Fátima L. Assis ◽  
Suely A. Marques-Aguiar ◽  
Julio C. Pieczarka ◽  
...  
Keyword(s):  
X Chromosome ◽  
Pericentric Inversion ◽  
Constitutive Heterochromatin ◽  
Distal Region ◽  
C Banding ◽  
Primitive Condition ◽  
Autosome Pair ◽  
Phyllostomus Discolor

The karyotypes of Phyllostomus discolor and P. hastatus from Eastern Amazonia were studied by G-, C-, G/C sequential and Ag-NOR techniques. Both species presented 2n = 32, with the autosome complement composed of 30 bi-armed in P. discolor and 28 bi-armed plus 1 acrocentric in P. hastatus. In both species, the X chromosome is medium submetacentric while the Y is minute acrocentric. The present study found only one difference between the karyotypes of P. discolor and P. hastatus: the smallest autosome (pair 15) is bi-armed in discolor and acrocentric in hastatus, a result best explained by pericentric inversion. The C-banding revealed constitutive heterochromatin only at the centromeric regions of all chromosomes, with the NOR site located at the distal region of short arm of pair 15, in both species. The taxon P. discolor is considered primitive for genus Phyllostomus and the bi-armed form of pair 15 is the assumed primitive condition which, rearranged by a pericentric inversion originated the acrocentric from found in P. hastatus.

Turnerʼs Syndrome with a Duplication-Deficiency X Chromosome Derived from a Maternal Pericentric Inversion X Chromosome

1979 ◽  
Vol 34 (9) ◽  
pp. 681-683
Author(s):  
TOHRU MAEDA ◽  
MICHIKO OHNO ◽  
MASUMI TAKADA ◽  
MASATO NISHIDA ◽  
KAZUKO TSUKIOKA ◽  
...  
Keyword(s):  
X Chromosome ◽  
Pericentric Inversion

An Electroporetic and Chromosomal Study of the Dasyurid Marsupial Genus Ningaui Archer

1983 ◽  
Vol 31 (3) ◽  
pp. 381 ◽  
Author(s):  
PR Baverstock ◽  
M Adams ◽  
M Archer ◽  
NL Mckenzie ◽  
RA How
Keyword(s):  
X Chromosome ◽  
Western Australia ◽  
Reciprocal Translocation ◽  
Pericentric Inversion ◽  
Constitutive Heterochromatin ◽  
South Australia ◽  
Isozyme Electrophoresis ◽  
The Third ◽  
Genetic Groups ◽  
Karyotypic Diversity

Isozyme electrophoresis of 28 loci was used to characterize 30 specimens of Ningaui from four States of Australia. The specimens fall into three genetic groups, with large differences between groups (21-32% fixed differences) and genetic homogeneity within groups. One group, from the Pilbara of Western Australia, is referable to N. timealeyi; a second group, extending from the Kalgoorlie area of Western Australia to the far west of South Australia and north to the Tanami Desert of the Northern Temtory, is referable to N. ridei; and a third group extends from the Kalgoorlie area of Western Australia (where it is sympatric with N. ridei) across southern South Australia and into north-westem Victoria. Because the third group maintains its genetic uniqueness despite being sympatric with N. ridei, it clearly represents a different species, N. yvonnae Kitchener, Stoddart & Henry. This species is distinguishable from N. ridei on skull characters, but indistinguishable on external characters. In contrast to most dasyurids, ningauis display considerable karyotypic diversity involving a pericentric inversion, a reciprocal translocation and addition of constitutive heterochromatin to the X-chromosome.

Drosophila willistoni polytene chromosomes. I. Pericentric inversion on X chromosome

Caryologia ◽  
2005 ◽  
Vol 58 (3) ◽  
pp. 249-254 ◽  
Author(s):  
Rohde Cláudia ◽  
Tiago H. Degrandi ◽  
Daniela C. De Toni ◽  
Vera L. S. Valente
Keyword(s):  
X Chromosome ◽  
Pericentric Inversion ◽  
Polytene Chromosomes ◽  
Drosophila Willistoni

scholarly journals MON-056 Rare X Chromosome Pericentric Inversion Associated with Ovotesticular Disorder of Sex Development

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Gil Guerra-Junior ◽  
Ana Paula Santos ◽  
Flavia M Oliveira ◽  
Tarsis A P Vieira ◽  
Nilma L V Campos ◽  
...  
Keyword(s):  
X Chromosome ◽  
Pericentric Inversion ◽  
Chromosome 9 ◽  
Urogenital Sinus ◽  
Seminiferous Tubules ◽  
Chromosome Inversion ◽  
Disorder Of Sex Development ◽  
Sex Development ◽  
Genital Ambiguity ◽  
The Right

Abstract Ovotesticular disorder of sex development (OT-DSD) is a rare condition characterized by coexistence of ovarian and testicular parenchyma, in separate gonads or in the same gonad (ovotestis), in individuals with variable degrees of genital ambiguity. Karyotype may be 46,XX (60%), 46,XY (10%), or there may be sex chromosomes abnormalities, including mosaicism, chimerism and structural anomalies (30%). A genetic origin may be identified in some subjects with normal XX or XY karyotype, but most cases are of unknown origin. Apparently balanced chromosome rearrangements (translocations, insertions and inversions) may cause truncation, deletion, inactivation or over-expression of specific genes. We report on a case of OT-DSD associated with an X chromosome inversion. Case report: A 3-month old girl was referred due to atypical genitalia. She was born at term to a 42 years old G3P2A1 mother and her 45 years old unrelated husband with normal weight, length and head circumference. She had normal development, no associated health problems, and family history was unremarkable. Physical examination revealed a 3.1-cm phallus with chordee, scrotal hypospadias, partial penoscrotal inversion and a 0.5 cm3 right gonad palpable in the inguinal region; there were no associated dysmorphic features. At 1.5 months there were normal levels of FSH (3.09 IU/L) and LH (3.67 IU/L), and testosterone (155 ng/dL) was in the normal male range. Ultrasound revealed normal uterus and gonads were in the inguinal regions. Urethra-cystoscopy and vaginoscopy at 9 months revealed a urogenital sinus with high vaginal confluence. Laparoscopy and gonadal biopsies were also performed; the left gonad was an ovotestis with multiple ovarian follicles, while the right gonad was a testis. In both gonads the seminiferous tubules had only Sertoli cells. Karyotype revealed a pericentric X chromosome inversion, 46,X,inv(X)(p22.1q26)dn[20]. FISH on peripheral blood and cultured cells from the right gonad with probes for X (DXZ1) and Y (DYZ3) centromeres and SRY (Yp11.3 - 122 Kb) showed only two X chromosome signals. Array GH analysis (Cytoscan 750K, Affymetrix) showed a 1.3 Mb deletion distal to the short arm breakpoint (Xp22.31), which was reported as VOUS, and a 9 Mb region of LOH on chromosome 9. Discussion: Several cases of X pericentric inversion with different breakpoints have been reported; though phenotypes of female heterozygotes are often normal, early menopause, irregular menses, gonadal dysgenesis or sterility have been described. In this case, it is plausible that the genomic rearrangement could have affected long-range regulation of SOX3 (located in Xq27.1) resulting in ectopic expression of this gene in the bipotential gonad. In addition, the features detected in array GH may have a role in the phenotype. Different methods to determine the exact chromosomal breakpoints and copy number variations in this region will be required.

scholarly journals Pericentric inversion and X chromosome polymorphism inRhipidomyssp. (Cricetidae, Rodentia) from Brazil

Caryologia ◽  
1993 ◽  
Vol 46 (2-3) ◽  
pp. 219-225 ◽  
Author(s):  
Marta Svartman ◽  
Eunice Judith Cardoso de Almeida
Keyword(s):  
X Chromosome ◽  
Pericentric Inversion ◽  
Chromosome Polymorphism
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